Canonical Allele Identifier: CA393202983

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67066295-G-C
• MyVariant Identifiers: chr15:g.67358633G>C (hg19) ; chr15:g.67066295G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066295G>C , CM000677.2:g.67066295G>C	GRCh38
NC_000015.9:g.67358633G>C , CM000677.1:g.67358633G>C	GRCh37
NC_000015.8:g.65145687G>C	NCBI36
NG_011990.1:g.5439G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2351G>C	ENSP00000453082.2:n.-110+2351G>C
ENST00000560424.2:c.141G>C	ENSP00000455540.2:p.Gln47His
ENST00000327367.9:c.141G>C MANE Select	ENSP00000332973.4:p.Gln47His
ENST00000327367.8:c.141G>C	ENSP00000332973.4:p.Gln47His
ENST00000559460.5:c.-110+2351G>C	ENSP00000453082.1:n.-110+2351G>C
NM_005902.3:c.141G>C	NP_005893.1:p.Gln47His
XM_011521559.1:c.141G>C	XP_011519861.1:p.Gln47His
XM_011521559.3:c.141G>C	XP_011519861.1:p.Gln47His
NM_005902.4:c.141G>C MANE Select	NP_005893.1:p.Gln47His